Results 281 to 290 of about 604,484 (380)

A Multi‐Stimuli‐Responsive Pd2L4 Metallacage for Amino Acid Sensing

open access: yesAggregate, EarlyView.
A multi‐stimuli‐responsive metallacage was constructed via a bottom‐up design strategy, and its stimuli‐responsive behaviors were investigated in response to basic/acidic reagents, naphthalene disulfonate, and thiol‐containing amino acids, accompanied by remarkable structural transformations and fluorescence variations.
Dongpu Wu   +7 more
wiley   +1 more source

A structural machine learning approach for rapid prediction of thermodynamically destabilizing tyrosine phosphorylations. [PDF]

open access: yesCell Rep Methods
Woodard J   +8 more
europepmc   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio   +12 more
wiley   +1 more source

Cellular phospho-signaling map of the enigmatic serine/threonine kinase MAST2. [PDF]

open access: yesBiochem Biophys Rep
Fathima I   +7 more
europepmc   +1 more source

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